Mutagenetix > Incidental Mutation

Incidental Mutation 'R3825:Atp4b'

275339

Institutional Source

Beutler Lab

Gene Symbol

Atp4b

Ensembl Gene

ENSMUSG00000031449

Gene Name

ATPase, H+/K+ exchanging, beta polypeptide

Synonyms

H+/K+-ATPase beta, H,K-ATPase-Beta, H+,K+-ATPase

MMRRC Submission

040774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13436209-13446778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13443549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 43 (Y43C)

Ref Sequence

ENSEMBL: ENSMUSP00000033826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033826]

AlphaFold

P50992

Predicted Effect

probably damaging
Transcript: ENSMUST00000033826
AA Change: Y43C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: Y43C

Domain	Start	End	E-Value	Type
Pfam:Na_K-ATPase	7	288	5.7e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211331

Meta Mutation Damage Score

0.6309

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
Abcb5	C	T	12: 118,865,087 (GRCm39)		probably null	Het
Acot1	G	T	12: 84,061,194 (GRCm39)	G167*	probably null	Het
Agbl1	C	T	7: 76,069,715 (GRCm39)	H164Y	probably damaging	Het
Bsn	T	C	9: 107,984,055 (GRCm39)	D3333G	unknown	Het
Ccdc27	A	C	4: 154,120,742 (GRCm39)	D351E	unknown	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Dbndd1	T	A	8: 124,236,731 (GRCm39)	I75F	probably damaging	Het
Dennd5b	T	C	6: 148,946,334 (GRCm39)	K426E	probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fmo1	T	C	1: 162,678,916 (GRCm39)		probably benign	Het
Foxn2	A	T	17: 88,791,837 (GRCm39)	I236F	probably damaging	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gpr15	A	G	16: 58,538,723 (GRCm39)	F122S	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,780 (GRCm39)	I158M	possibly damaging	Het
Hmcn1	A	T	1: 150,462,716 (GRCm39)	D5140E	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Il7	A	G	3: 7,642,226 (GRCm39)		probably benign	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kynu	A	G	2: 43,571,451 (GRCm39)	T456A	probably benign	Het
Lcorl	A	G	5: 45,932,729 (GRCm39)		probably benign	Het
Lrp5	G	A	19: 3,655,290 (GRCm39)	R1077*	probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	T	A	4: 123,338,744 (GRCm39)	D1436V	probably benign	Het
Map4k2	C	A	19: 6,394,081 (GRCm39)	T252N	probably benign	Het
Mterf2	A	T	10: 84,956,147 (GRCm39)	L159Q	probably damaging	Het
Muc5ac	C	A	7: 141,368,460 (GRCm39)	T3063K	possibly damaging	Het
Myo18a	T	A	11: 77,668,292 (GRCm39)	S51T	possibly damaging	Het
Ncoa3	G	T	2: 165,896,718 (GRCm39)	G503V	possibly damaging	Het
Ncor1	A	T	11: 62,264,183 (GRCm39)	H406Q	probably benign	Het
Nectin2	T	C	7: 19,458,510 (GRCm39)	K434E	possibly damaging	Het
Nipal2	A	T	15: 34,578,852 (GRCm39)		probably null	Het
Nub1	G	C	5: 24,912,851 (GRCm39)	S517T	probably benign	Het
Or10a4	T	C	7: 106,696,816 (GRCm39)	L48P	possibly damaging	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Plxnb2	G	T	15: 89,050,602 (GRCm39)	N451K	probably benign	Het
Ppp2r2a	A	G	14: 67,259,892 (GRCm39)	L268P	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rhot1	G	A	11: 80,116,907 (GRCm39)	V94I	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Smc6	T	A	12: 11,351,517 (GRCm39)		probably benign	Het
Spink8	T	A	9: 109,645,861 (GRCm39)	V11D	probably damaging	Het
Ss18l1	A	T	2: 179,705,103 (GRCm39)	Q365L	unknown	Het
Tbc1d31	T	A	15: 57,779,474 (GRCm39)	H62Q	probably benign	Het
Tbc1d9b	T	C	11: 50,061,954 (GRCm39)	V1171A	possibly damaging	Het
Tln1	G	A	4: 43,536,413 (GRCm39)		probably benign	Het
Tmem220	G	A	11: 66,916,077 (GRCm39)	A25T	possibly damaging	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tmod3	A	T	9: 75,414,809 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,398,021 (GRCm39)	Y52N	probably damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Ube2frt	T	C	12: 36,141,036 (GRCm39)		probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn2r76	C	T	7: 85,880,415 (GRCm39)	M90I	probably benign	Het
Zfr	C	T	15: 12,166,277 (GRCm39)	A849V	probably damaging	Het
Znhit6	T	C	3: 145,284,099 (GRCm39)	M95T	probably benign	Het

Other mutations in Atp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Atp4b	APN	8	13,439,679 (GRCm39)	missense	probably damaging	1.00
IGL02596:Atp4b	APN	8	13,443,471 (GRCm39)	missense	possibly damaging	0.87
R0558:Atp4b	UTSW	8	13,443,523 (GRCm39)	missense	possibly damaging	0.62
R0829:Atp4b	UTSW	8	13,440,098 (GRCm39)	missense	probably damaging	1.00
R0963:Atp4b	UTSW	8	13,440,014 (GRCm39)	missense	probably benign	0.00
R1528:Atp4b	UTSW	8	13,439,693 (GRCm39)	missense	possibly damaging	0.78
R1605:Atp4b	UTSW	8	13,443,489 (GRCm39)	missense	probably damaging	1.00
R2022:Atp4b	UTSW	8	13,437,477 (GRCm39)	missense	possibly damaging	0.88
R3824:Atp4b	UTSW	8	13,443,549 (GRCm39)	missense	probably damaging	1.00
R4108:Atp4b	UTSW	8	13,446,640 (GRCm39)	critical splice donor site	probably null
R4400:Atp4b	UTSW	8	13,438,810 (GRCm39)	missense	probably damaging	1.00
R4606:Atp4b	UTSW	8	13,439,998 (GRCm39)	missense	probably damaging	1.00
R4681:Atp4b	UTSW	8	13,439,700 (GRCm39)	missense	probably benign	0.01
R6056:Atp4b	UTSW	8	13,438,782 (GRCm39)	missense	probably damaging	1.00
R7485:Atp4b	UTSW	8	13,436,732 (GRCm39)	missense	probably benign
R7888:Atp4b	UTSW	8	13,439,811 (GRCm39)	missense	probably damaging	0.98
R8743:Atp4b	UTSW	8	13,443,489 (GRCm39)	missense	probably damaging	1.00
R8896:Atp4b	UTSW	8	13,437,514 (GRCm39)	missense	probably benign	0.00
R9523:Atp4b	UTSW	8	13,436,746 (GRCm39)	missense	probably damaging	0.99
R9742:Atp4b	UTSW	8	13,440,097 (GRCm39)	missense	probably damaging	1.00
Z1177:Atp4b	UTSW	8	13,446,684 (GRCm39)	small deletion	probably benign
Z1177:Atp4b	UTSW	8	13,439,794 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGATACTCTGCTATGGTCTACTG -3'
(R):5'- ATGCACATGCCCTGTAGCTC -3'

Sequencing Primer
(F):5'- ACTGTATGTTGCCCCAAGAG -3'
(R):5'- CCAAAGAGCTCAGAGATTCTGCTTG -3'

Posted On

2015-04-02